T8I (p.Thr8Ile) variant of SERPINC1 (Antithrombin-III)
T8I (p.Thr8Ile) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD rs1658031380
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- CADD 5.55
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available